HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252321.3:p.[Phe519_Pro532delinsLeuGlnLeuLeuLeuProProGlyAsnGlySerArgGly;Val534_Gln539del;Thr541_Gln542del;Gln544_Gly545del;Gly547_Leu548del] |
CA2499221726
ENST00000252321.5:c.1554dup
|